Varaico: Literature-Extracted Genetic Variants

Gene:HMX1
Variant:p.E163*
Back to variants list

HMX1

NM_018942.3:p.E163*

Associated Papers

A new nonsense mutation in HMX1 in two siblings with oculoauricular syndrome.

Ansar M et al.

Ophthalmic Genetics, 2022

Clinical and genetic spectrums of 413 North African families with inherited retinal dystrophies and optic neuropathies.

Bouzidi A et al.

Orphanet Journal of Rare Diseases, 2022

35551639 (PubMed )
Supplement: 13023_2022_2340_MOESM3_ESM.xlsx › Feuil1

Further delineation of the oculoauricular syndrome phenotype: A new family with a novel truncating HMX1 mutation.

Abdel-Salam GMH et al.

Ophthalmic Genetics, 2018

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."